Article Figures & Data

Figures

Association between detection of mutated alleles in ctDNA, tumor size, NIH risk criteria, and mutation type in treatment-naïve GIST. The 44 newly diagnosed, treatment naïve patients were sorted based on mutated KIT or PDGFRA allele frequency for those with detected ctDNA in plasma (ctDNA positive) and sorted on tumor size for the remaining patients (ctDNA negative). The status for the variables tumor size, NIH risk classification, and mutation type are given below the graph.

Intratumor heterogeneity and clonal evolution of the tumor of a patient with GIST. A,KIT mutations identified in FFPE sections from different parts of the imatinib-treated tumor. Each bar represents data from one FFPE tumor specimen with the relative frequency of the indicated KIT primary and secondary mutations, based on Archer Reveal ctDNA sequencing. B, Evolution of tumor mutations during disease course of the patient. Shown allele frequencies of mutated KIT in fresh frozen biopsy at time of diagnosis, tumor at the time of surgery (average of the 10 FFPE specimens in A), and plasma before surgery at time of progressive disease (PD). Plasma samples were further collected at time of treatment change (to sunitinib or regorafenib). The amount (allele frequency) of each of the mutations is represented by the height of each curve, and then stacked on top of each other. The different mutations are identical colour coded in A and B.

Additional Files

Supplementary Data

Supplementary Tables 1-3 -
Supplementary Table 1. A detailed overview of the somatic KIT and PDGFRA mutations
found in the tumour, and somatic mutations found in plasma of the 50 GIST patients;
Supplementary Table 2. Overview of mutated allele frequencies of the somatic mutations
identified in tumour and plasma samples from the GIST case patient; Supplementary
Table 3. Somatic KIT mutations identified in FFPE blocks collected at time of surgery
from 10 different parts of the imatinib treated tumour of the case patient #50.